Zusammenfassung
Die Osteopetrose repräsentiert eine Gruppe von Skeletterkrankungen, die durch eine erhöhte Knochendichte charakterisiert werden. Sie wird durch eine angeborene Störung in der Differenzierung oder in der Funktion von Osteoklasten verursacht. Es handelt sich um eine genetisch und morphologisch sehr heterogene Erkrankung. Das mikroskopische Bild zeigt stets ein sklerotisches Knochengewebe mit entweder fehlenden oder aber stark vermehrten sowie vergrößerten, insuffizienten Osteoklasten. Des Weiteren kann es sowohl zu Mineralisierungsdefekten als auch zu einer normwertigen Mineralisierung der Knochenmatrix kommen. Wir präsentieren typische Beispiele von humaner Osteopetrose mit bekannten genetischen Veränderungen (Mutationen der TNFRSF11A-, TCIRG1-, CNCL7- und KINDLIN-3-Gene) und diskutieren Genotyp-Phänotyp-Korrelationen. Durch histopathologische Analysen von Knochenbiopsien seltener Skeletterkrankungen wie der Osteopetrose können neue Erkenntnisse über den Knochenmetabolismus gewonnen und so das klinische Prozedere von anderen Knochenerkrankungen verbessert werden.
Abstract
Osteopetrosis is a rare inherited bone disorder characterized by increased bone density owing to failure in bone resorption by the osteoclasts. The disease is genetically and histologically heterogeneous with a wide spectrum of microscopic findings. The histology varies from cases with a total absence of osteoclasts to bone biopsies characterized by high numbers of enlarged multinucleated osteoclasts on a background of sclerotic cancellous bone with or without additional defect of mineralization of the bone matrix. Here we present typical cases of human osteopetrosis on the basis of bone biopsies with four distinct genotypes (mutations of TNFRSF11A, TCIRG1, CNCL7, KINDLIN-3 genes) and discuss genotype-phenotype relationships. Analyzing human bone biopsies of rare skeletal disorders might improve our understanding of bone metabolism with possible implications for the clinical management of other bone diseases.
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J. Zustin, M. Amling, R. Crazzolara, S. Butscheidt, A. Schulz und R. Oheim geben an, dass kein Interessenkonflikt besteht.
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Zustin, J., Amling, M., Crazzolara, R. et al. Morphologische Veränderungen des Knochengewebes bei Osteopetrose. Pathologe 39, 164–171 (2018). https://doi.org/10.1007/s00292-017-0370-1
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DOI: https://doi.org/10.1007/s00292-017-0370-1